RAPADILINO syndrome is an autosomal recessive disorder characterized by: * RA: radial ray defect * PA: patellar

aplasia Aplasia (; from Greek ''a'', "not", "no" + ''plasis'', "formation") is a birth defect where an organ or tissue is wholly or largely absent. It is caused by a defect in a developmental process. Aplastic anemia is the failure of the body to produc ...

, arched or cleft palate * DI: diarrhea, dislocated joints * LI: little (short stature), limb malformation * NO: slender nose, normal intelligence It is more prevalent in

Finland Finland ( fi, Suomi ; sv, Finland ), officially the Republic of Finland (; ), is a Nordic country in Northern Europe. It shares land borders with Sweden to the northwest, Norway to the north, and Russia to the east, with the Gulf of B ...

than elsewhere in the world. It has been associated with the gene RECQL4. This is also associated with

Rothmund–Thomson syndrome Rothmund–Thomson syndrome (RTS) is a rare autosomal recessive skin condition. There have been several reported cases associated with osteosarcoma. A hereditary basis, mutations in the DNA helicase ''RECQL4'' gene, causing problems during initi ...

and Baller–Gerold syndrome.

References

External links

GeneReviews/NCBI/NIH/UW entry on Baller-Gerold Syndrome
Congenital disorders of musculoskeletal system Autosomal recessive disorders Rare syndromes Syndromes affecting bones DNA replication and repair-deficiency disorders Syndromes affecting stature {{musculoskeletal-stub